Key result
Microarray analysis and/or MLPA identified large deletions involving PKP2 in two cases of ARVC that would have been classified as genotype negative with standard clinical genetic testing.
Why the study?
Does microarray analysis or MLPA improve the detection of genetic mutations in patients with clinically suspected ARVC who are negative on standard sequencing?
Case Report (n=2)
Does microarray analysis or MLPA improve the detection of genetic mutations in patients with clinically suspected ARVC who are negative on standard sequencing?
Microarray analysis and MLPA can identify large copy number variants in PKP2 in ARVC patients who appear genotype-negative on standard DNA sequencing.
No takes yet. Share an insight, caveat, or question.
May support copy number analysis in genotype-negative ARVC; hypothesis-generating pending larger validation studies.
Roberts et al. (2012) conducted a case report in Arrhythmogenic right ventricular cardiomyopathy (ARVC) (n=2). Microarray analysis and/or multiplex ligation-dependent probe amplification (MLPA) vs. Standard clinical genetic testing (direct DNA sequencing) was evaluated on Detection of large deletions involving PKP2. Microarray analysis and/or MLPA identified large deletions involving PKP2 in two cases of ARVC that would have been classified as genotype negative with standard clinical genetic testing.
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